Canonical Allele Identifier: CA271610

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158741
• ClinVar RCV Id: RCV000146182
• dbSNP Id: rs587783700
• MyVariant Identifiers: chr12:g.49416064T>A (hg19) ; chr12:g.49022281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022281T>A , CM000674.2:g.49022281T>A	GRCh38
NC_000012.11:g.49416064T>A , CM000674.1:g.49416064T>A	GRCh37
NC_000012.10:g.47702331T>A	NCBI36
NG_027827.1:g.38044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.381A>T
ENST00000681974.1:n.1083A>T
ENST00000682693.1:n.2045A>T
ENST00000682886.1:n.817A>T
ENST00000683543.2:c.16459A>T	ENSP00000506726.1:p.Arg5487Trp
ENST00000683988.1:c.382A>T	ENSP00000506939.1:p.Arg128Trp
ENST00000684428.1:c.1004A>T	ENSP00000507433.1:n.1004A>T
ENST00000685024.1:c.1565A>T
ENST00000685166.1:c.16420A>T	ENSP00000509386.1:p.Arg5474Trp
ENST00000691932.1:c.412A>T	ENSP00000509037.1:p.Arg138Trp
ENST00000692637.1:c.16408A>T	ENSP00000509666.1:p.Arg5470Trp
ENST00000301067.12:c.16411A>T MANE Select	ENSP00000301067.7:p.Arg5471Trp
ENST00000301067.11:c.16411A>T	ENSP00000301067.7:p.Arg5471Trp
ENST00000526209.1:c.454A>T	ENSP00000435714.1:p.Arg152Trp
NM_003482.3:c.16411A>T	NP_003473.3:p.Arg5471Trp
XM_005269162.3:c.16411A>T	XP_005269219.1:p.Arg5471Trp
XM_006719614.2:c.16420A>T	XP_006719677.1:p.Arg5474Trp
XM_006719616.2:c.16408A>T	XP_006719679.1:p.Arg5470Trp
XM_011538770.1:c.16468A>T	XP_011537072.1:p.Arg5490Trp
XM_011538771.1:c.16465A>T	XP_011537073.1:p.Arg5489Trp
XM_011538772.1:c.16459A>T	XP_011537074.1:p.Arg5487Trp
XM_011538773.1:c.16456A>T	XP_011537075.1:p.Arg5486Trp
XM_011538774.1:c.16447A>T	XP_011537076.1:p.Arg5483Trp
XM_011538775.1:c.16402A>T	XP_011537077.1:p.Arg5468Trp
XM_011538776.1:c.16375A>T	XP_011537078.1:p.Arg5459Trp
XM_005269162.4:c.16411A>T	XP_005269219.1:p.Arg5471Trp
XM_006719614.4:c.16420A>T	XP_006719677.1:p.Arg5474Trp
XM_006719616.3:c.16408A>T	XP_006719679.1:p.Arg5470Trp
XM_011538770.2:c.16468A>T	XP_011537072.1:p.Arg5490Trp
XM_011538771.2:c.16465A>T	XP_011537073.1:p.Arg5489Trp
XM_011538772.2:c.16459A>T	XP_011537074.1:p.Arg5487Trp
XM_011538773.2:c.16456A>T	XP_011537075.1:p.Arg5486Trp
XM_011538774.2:c.16447A>T	XP_011537076.1:p.Arg5483Trp
XM_011538776.2:c.16375A>T	XP_011537078.1:p.Arg5459Trp
XR_001748874.1:n.16588A>T
NM_003482.4:c.16411A>T MANE Select	NP_003473.3:p.Arg5471Trp